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Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)
Elodie Fiot
,
Bertille Alauze
,
Bruno Donadille
,
Dinane Samara-Boustani
,
Muriel Houang
,
et al.
Journal articles
inserm-04031866v1
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Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit
Bruno Donadille
,
Muriel Houang
,
Irène Netchine
,
Jean-Pierre Siffroi
,
Sophie Christin-Maitre
Journal articles
inserm-03867576v1
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Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias
Matthieu Peycelon
,
Lamisse Mansour-Hendili
,
Capucine Hyon
,
Nathalie Collot
,
Muriel Houang
,
et al.
Journal articles
inserm-03837653v1
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Combining metabolomics and machine learning models as a tool to distinguish non-classic 21-hydroxylase deficiency from polycystic ovary syndrome without adrenocorticotropic hormone testing
Guillaume Bachelot
,
Anne Bachelot
,
Marion Bonnier
,
Joe-Elie Salem
,
Dominique Farabos
,
et al.
Journal articles
hal-03996582v1
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Association of Maternal First Trimester Serum Levels of Free Beta Human Chorionic Gonadotropin and Hypospadias: A Population Based Study
Matthieu Peycelon
,
Nathalie Lelong
,
Léa Carlier
,
M. Francesca Monn
,
Aliénor de Chalus
,
et al.
Journal articles
hal-03009486v1
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Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome)
Sophie Christin-Maitre
,
Maria Givony
,
Frédérique Albarel
,
Anne Bachelot
,
Maud Bidet
,
et al.
Journal articles
inserm-03856183v1
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SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
Sébastien Albert
,
Hélène Blons
,
Laurence Jonard
,
Delphine Feldmann
,
Pierre Chauvin
,
et al.
Journal articles
inserm-00102388v1
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Increasing knowledge in IGF1R defects: lessons from 35 new patients
Eloïse Giabicani
,
Marjolaine Willems
,
Virginie Steunou
,
Sandra Chantot-Bastaraud
,
Nathalie Thibaud
,
et al.
Journal articles
hal-02435128v1
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